The Confluence project will develop a large research resource to uncover breast cancer genetics through genome-wide association studies (GWAS). The resource will include at least 300,000 breast cancer cases and 300,000 controls of different races/ethnicities. This will be accomplished by the confluence of existing GWAS and new genome-wide genotyping data to be generated through this project.
Broad scientific aims that can be addressed through this resource include:
- To discover susceptibility loci and advance knowledge of etiology of breast cancer overall and by subtypes.
- To develop polygenic risk scores and integrate them with known risk factors for personalized risk assessment for breast cancer overall and by subtypes.
- To discover loci for breast cancer prognosis, long-term survival, response to treatment, and second breast cancer.
To be eligible to participate, studies with cases of in situ or invasive breast cancer (females or males) must have:
- Genome-wide genotyping data or germline DNA for genotyping, i.e.:
- existing genome-wide genotyping data, or
- germline DNA available for new genotyping, or
- blood/buccal samples for germline DNA isolation and genotyping.
- Basic phenotype data (e.g. age at diagnosis, gender, family history of breast cancer)
- Appropriate ethics approval for genetic studies and data sharing
For more details on Confluence and how studies can participate, please refer to the:
Please contact the project manager, Thomas Ahearn, at ConfluenceProject@nih.gov if you are interested in participating in Confluence.
Confluence is supported by NCI Intramural Research funds.